Thalassemia

Topic Overview

What is thalassemia?

Thalassemia (say "thal-uh-SEE-mee-uh") is an inherited blood disorder that causes your body to make less hemoglobin. Hemoglobin helps red blood cells spread oxygen through your body. Low levels of hemoglobin may cause anemia, an illness that makes you feel weak and tired. Severe anemia can damage organs and lead to death.

What causes thalassemia?

Thalassemia is passed from parent to child. A defect in one or more genes causes it. Both parents must carry a gene for the disease in order to pass it to their child.

What are the symptoms?

Mild thalassemia usually does not cause any symptoms.

If you have moderate or severe thalassemia, you may have signs of anemia, such as:

• Feeling weak and tired.
• Feeling faint.
• Feeling less hungry and losing weight.
• Skin that looks paler than normal.
• Jaundice (skin and whites of the eyes appear yellow).
• Dark urine.
• A fast heartbeat.
• Shortness of breath during exercise.

How is thalassemia diagnosed?

Your doctor will do an exam and ask about your health history. Tests include:

• A complete blood count (CBC).
• A gene test.
• An iron level test, to find out whether you have iron deficiency anemia.
• A blood test that measures the amounts of different types of hemoglobin, to help find out which type of thalassemia you have.
• A complete blood count (CBC) test on other members of your family, to find out if they have thalassemia.

How is it treated?

Treatment depends on how severe your condition is.

• Mild thalassemia, the most common form, does not need treatment.
• Moderate thalassemia may be treated with folic acid supplements and blood transfusions.
• Severe thalassemia may be treated with:
  • Blood transfusions.
  • Folic acid.
  • Surgery to remove the spleen.
  • A bone marrow transplant, in some severe cases.

If you are treated with blood transfusions, it’s possible for your body to get too much iron through repeated transfusions. This can damage your organs, especially the liver. If you have too much iron, your doctor may give you chelation therapy, which is a medicine that helps remove iron from your body.

What are the types of thalassemia?

There are two main types of thalassemia: alpha and beta. Beta thalassemia is the most common.

Beta thalassemia

You need both alpha- and beta-globin to make hemoglobin. Beta thalassemia occurs when one or both of the genes that make beta-globin don't work or only partly work as they should. It mainly affects people from the region around the Mediterranean Sea (such as Greeks and Italians). Less often, it affects people of African or Asian descent. There are several types of beta thalassemia.

• If you have one damaged beta-globin gene, you may have mild anemia and probably will not need treatment. This condition is called beta thalassemia minor or beta thalassemia trait. This happens when you get a normal gene from one parent and a thalassemia gene from the other.
• When both beta-globin genes are damaged, it means you got a thalassemia gene from each parent. You may have moderate or severe anemia.
  • If you have moderate anemia (beta thalassemia intermedia), you may need blood transfusions. People with this condition usually live into adulthood.
  • People with severe anemia (called beta thalassemia major or Cooley's anemia) usually do not live into adulthood without treatment. Symptoms of anemia usually begin within a few months after birth. A child who receives blood transfusions early and then throughout life is more likely to live longer.

Alpha thalassemia

Alpha thalassemia occurs when one or more of the four alpha-globin genes that make hemoglobin are missing or damaged. It mainly affects people from Southeast Asia, China, and the Philippines, but it sometimes affects people of African descent and can occur throughout the world.

There are four types of alpha thalassemia. Each type represents the loss of or damage to one, two, three, or four genes.

• One gene: If one alpha-globin gene is missing or damaged, you will have no symptoms and will not need treatment. But you are a silent carrier. This means you don't have the disease but you can pass the defective gene to your child.
• Two genes: If two alpha-globin genes are missing or damaged, you will have very mild anemia that will not need treatment. This is called alpha thalassemia minor or alpha thalassemia trait.
• Three genes: If three alpha-globin genes are missing, you will have mild to moderately severe anemia. This is sometimes called hemoglobin H disease. If it is severe, you may need blood transfusions.
• Four genes: If all four alpha-globin genes are missing (alpha thalassemia major), the fetus will be stillborn, or the child will die shortly after birth.

Frequently Asked Questions

Learning about thalassemia:	What is thalassemia? What causes it? What are the symptoms?
Being diagnosed:	How do I find out if I have thalassemia?
Getting treatment:	How is thalassemia treated?
Living with thalassemia:	What can I do at home to treat thalassemia?

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Author:	Robin Parks, MS	Last Updated: July 8, 2009
Medical Review:	E. Gregory Thompson, MD - Internal Medicine Brian Leber, MDCM, FRCPC - Hematology
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